Variant report

Variant	nsv966624
Chromosome Location	chr6:67690903-67713862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67697416..67700217-chr6:67716740..67718720,2	K562	blood:
2	chr6:67690651..67692337-chr6:67701670..67703736,2	K562	blood:
3	chr6:67703812..67706032-chr6:67716375..67719338,2	K562	blood:
4	chr6:67690651..67692337-chr6:67701670..67703736,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543688958	chr6:67696630-67696631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557281243	chr6:67696635-67696636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75558193	chr6:67696651-67696652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373992981	chr6:67696667-67696668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559748292	chr6:67696668-67696669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377028634	chr6:67696673-67696674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201361935	chr6:67696681-67696682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73743041	chr6:67696688-67696689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79687484	chr6:67696689-67696690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149610739	chr6:67696699-67696700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553563923	chr6:67696707-67696708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111480181	chr6:67696715-67696716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114101680	chr6:67696717-67696718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185537688	chr6:67696815-67696816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532298651	chr6:67696825-67696826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552423977	chr6:67696835-67696836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565736086	chr6:67696848-67696849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534404908	chr6:67696852-67696853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548296248	chr6:67696854-67696855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144320200	chr6:67696930-67696931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536692028	chr6:67696939-67696940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572141537	chr6:67696948-67696949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148749548	chr6:67697008-67697009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577120496	chr6:67697014-67697015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539613389	chr6:67697034-67697035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553305422	chr6:67697058-67697059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113945577	chr6:67697068-67697069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372256449	chr6:67697071-67697072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573416163	chr6:67697104-67697105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9354518	chr6:67697116-67697117	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190460481	chr6:67697121-67697122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576284590	chr6:67697151-67697152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142301207	chr6:67697178-67697179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544621986	chr6:67697182-67697183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201037314	chr6:67697191-67697192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147459595	chr6:67697204-67697205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532465472	chr6:67697222-67697223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113392201	chr6:67697238-67697239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559262971	chr6:67697248-67697249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528337095	chr6:67697268-67697269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547972760	chr6:67697312-67697313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567827583	chr6:67697315-67697316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536598245	chr6:67697318-67697319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112104724	chr6:67697343-67697344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180780243	chr6:67697416-67697417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373897531	chr6:67697431-67697432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543718785	chr6:67697446-67697447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370579294	chr6:67697466-67697467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562086408	chr6:67697487-67697488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75345028	chr6:67697536-67697537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67696600-67697000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr6:67696600-67697400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:67696800-67697400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:67696800-67697600	Enhancers	HepG2	liver
5	chr6:67697000-67698000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:67698000-67698200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:67702600-67703200	Enhancers	Hela-S3	cervix
8	chr6:67702600-67703600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:67703000-67703800	Active TSS	A549	lung
10	chr6:67703200-67703400	Active TSS	Hela-S3	cervix
11	chr6:67703400-67703600	Flanking Active TSS	Hela-S3	cervix

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